When Miya was first evaluated back in April, her joints were hyper-mobile. She did, however, have some stiffness in her shoulder joints. This stiffness is common in Hurler patients as they lack the ability to break down mucopolysaccharides (GAGs) and these accumulate in the joints, among other places. (For some technical terms and links to more information on them, see this post.) Because, at the time of the first evaluation, she lacked the muscle tone required to control her hyper-mobile joints, she was not yet crawling. The physios were confident that with time and enzyme therapy, she would crawl fairly soon after the evaluation. Within 4-5 weeks, lo and behold, Miya was crawling!!
At this pre-BMT evaluation, Miya's joints are still hyper-mobile and the stiffness in her shoulders was gone!! The enzyme infusion she has been receiving is obviously working very well, and doing its job of breaking down the GAGs. Michelle said that Miya is doing all the age-appropriate things she should be doing, and doing them very well. She had no advice for us or exercises for Miya. She did give us a tip on giving her confidence in walking unassisted, which involves holding onto a rubber ring. (She currently cruises around, holding onto furniture, people, toys or the dog. Sometimes it seems as if she teleports, getting from one place to another in a blink of an eye.)
Hyper-mobility is not often seen in Hurler children, and is often due to some hereditary component. We can only hope that she won't regress too much during BMT (although some degree of regression is common) and that she will continue to flourish under the ERTs that she is receiving. We also hope that the BMT is successful, and that the marker that creates the enzyme she lacks becomes 100% donor, therefore delivering enzyme to not only her lower body, but also to her brain (a place that the enzyme infusion cannot reach. GAGs continue to build up in Miya's brain, despite receiving weekly enzyme replacement therapy).
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